Variant report

Variant	rs17587706
Chromosome Location	chr11:107199658-107199659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10444318	1.00[ASN][1000 genomes]
rs11212134	1.00[ASN][1000 genomes]
rs11212148	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11212174	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11212199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11212238	1.00[ASN][1000 genomes]
rs12361977	1.00[ASN][1000 genomes]
rs12362335	1.00[ASN][1000 genomes]
rs12363600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12364307	1.00[ASN][1000 genomes]
rs12365270	1.00[ASN][1000 genomes]
rs12365910	1.00[ASN][1000 genomes]
rs1263297	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1272372	1.00[ASN][1000 genomes]
rs12796588	1.00[ASN][1000 genomes]
rs12800923	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17662199	1.00[ASN][1000 genomes]
rs1989215	1.00[ASN][1000 genomes]
rs2432867	1.00[ASN][1000 genomes]
rs34129089	1.00[ASN][1000 genomes]
rs34443916	1.00[ASN][1000 genomes]
rs34661012	1.00[ASN][1000 genomes]
rs34846704	1.00[ASN][1000 genomes]
rs34938694	1.00[ASN][1000 genomes]
rs35468021	1.00[ASN][1000 genomes]
rs35504279	1.00[ASN][1000 genomes]
rs476028	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs480609	1.00[ASN][1000 genomes]
rs487705	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs504617	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs514117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs517734	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs517929	1.00[CHB][hapmap]
rs518580	1.00[ASN][1000 genomes]
rs526875	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs527801	1.00[ASN][1000 genomes]
rs528337	1.00[ASN][1000 genomes]
rs529341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs536636	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs537563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs541782	1.00[ASN][1000 genomes]
rs546313	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs548049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549909	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs554506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs570235	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs584778	1.00[ASN][1000 genomes]
rs588678	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs589415	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs596268	1.00[ASN][1000 genomes]
rs599677	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs602625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs612080	1.00[CHB][hapmap]
rs619933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs626091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs627440	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs628609	1.00[CHB][hapmap]
rs632186	1.00[CHB][hapmap]
rs632910	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs632942	1.00[ASN][1000 genomes]
rs633543	1.00[ASN][1000 genomes]
rs644954	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs649331	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs652429	1.00[CHB][hapmap]
rs659040	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs661085	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs664836	1.00[ASN][1000 genomes]
rs667198	1.00[ASN][1000 genomes]
rs668415	1.00[ASN][1000 genomes]
rs67052454	1.00[ASN][1000 genomes]
rs67382158	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67428239	1.00[ASN][1000 genomes]
rs68000908	1.00[ASN][1000 genomes]
rs68027391	1.00[ASN][1000 genomes]
rs7118326	1.00[ASN][1000 genomes]
rs7129866	1.00[ASN][1000 genomes]
rs72986689	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990457	1.00[ASN][1000 genomes]
rs72997052	1.00[ASN][1000 genomes]
rs784147	1.00[ASN][1000 genomes]
rs7924335	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv556280	chr11:107158740-107231605	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv556281	chr11:107197869-107240802	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17587706	RP11-819C21.1	cis	Nerve Tibial	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107168800-107201000	Weak transcription	NHEK	skin
2	chr11:107169400-107230000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:107172800-107204200	Weak transcription	NH-A	brain
4	chr11:107173600-107231400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:107179200-107229800	Weak transcription	Psoas Muscle	Psoas
6	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
8	chr11:107189400-107201800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:107189800-107200400	Weak transcription	Fetal Brain Male	brain
10	chr11:107189800-107206200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:107190000-107223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:107191200-107200800	Strong transcription	Primary B cells from cord blood	blood
13	chr11:107191200-107205800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:107191600-107200400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:107191600-107200800	Strong transcription	Liver	Liver
16	chr11:107191600-107203200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:107191600-107208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:107191800-107201000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:107192000-107200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:107192000-107224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:107192200-107200200	Strong transcription	Primary T cells from cord blood	blood
22	chr11:107192200-107201000	Strong transcription	Adipose Nuclei	Adipose
23	chr11:107192200-107205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:107192200-107207400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:107192200-107208200	Weak transcription	Spleen	Spleen
26	chr11:107192200-107223800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:107192200-107225600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:107192200-107229000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:107192200-107232200	Weak transcription	Esophagus	oesophagus
30	chr11:107192400-107201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:107192400-107203600	Weak transcription	Pancreas	Pancrea
32	chr11:107192400-107214600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:107192600-107207400	Weak transcription	Colonic Mucosa	Colon
34	chr11:107192800-107201800	Weak transcription	HMEC	breast
35	chr11:107193000-107200400	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:107193800-107209600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:107193800-107229800	Weak transcription	Right Ventricle	heart
38	chr11:107193800-107237200	Weak transcription	Gastric	stomach
39	chr11:107194200-107205400	Weak transcription	HepG2	liver
40	chr11:107194200-107213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:107194400-107200000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:107194400-107206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:107194600-107200800	Weak transcription	Fetal Kidney	kidney
44	chr11:107194600-107208200	Weak transcription	Lung	lung
45	chr11:107194600-107208800	Weak transcription	GM12878-XiMat	blood
46	chr11:107194600-107221200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
48	chr11:107194800-107201800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:107194800-107202400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:107194800-107214800	Weak transcription	Brain Anterior Caudate	brain

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